Association between PAX9 or MSX1 gene polymorphism and tooth agenesis risk: A meta-analysis

Tooth loss represents the most prevalent form of dental agenesis. Anterior tooth loss primarily impacts aesthetics and psychological well-being, whereas posterior tooth loss influences bone growth patterns and masticatory function. Prolonged tooth loss can significantly hinder subsequent restorative procedures. Genetic factors are among the principal contributors to tooth loss, as genes dictate the location, quantity, and morphology of teeth; mutations at specific gene loci may result in underdevelopment or even complete absence of teeth. Investigating the relationship between gene polymorphisms and tooth loss could yield novel insights for future clinical interventions aimed at addressing this issue. Consequently, this study aims to elucidate the correlation between PAX9 and MSX1 gene polymorphisms and instances of tooth loss. We searched Cochrane, PubMed, Web of Science, MEDLINE, EMBASES, and CNKI journal databases for articles up to April 1, 2024 to determine the association of PAX9 and MSX1 genes with the risk of dental development. Used STATA version 11.2 to calculate the odds ratio (OR) and 95% confidence interval (CI). Analyzed meta-regression, sensitivity, and publication bias. Used Bayesian measures of the false positive reporting probability and false discovery probability to examine the reliability of the calculation. Finally, 12 eligible reports were included in this study, including 7 reports on PAX9 rs2073247, with 873 cases of polymorphism and 812 cases of control; 5 reports on PAX9 rs2073244, with 668 cases of polymorphism and 668 cases of control; 7 reports on MSX1 rs12532, with 762 cases of polymorphism and 1,544 cases of control. The ORs and 95% CIs showed a statistically significant relationship between PAX9 rs2073247 or PAX9 rs2073244 polymorphism and tooth agenesis risk. Moreover, there was no association observed for the MSX1 rs12532 polymorphism. In further subgroup analysis of the polymorphisms (PAX9 rs2073247, PAX9 rs2073244), we found an increased risk of tooth loss in the Caucasian and Hungarian groups. This article concludes that the PAX9 rs2073247 and PAX9 rs2073244 polymorphism might help to increase the risk of tooth agenesis. Understanding the mechanisms of genetic mutations will enable clinical physicians and human geneticists to develop new strategies for future therapeutic research and preventive treatments.